Retinitis pigmentosa 87 with choroidal involvement

Preferred Label : Retinitis pigmentosa 87 with choroidal involvement;

Symbol : RP87;

CISMeF acronym : RP87;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the retinoid isomerohydrolase RPE65 gene (RPE65, 180069.0013);

Prefixed ID : #618697;

Details

Origin ID

618697;

UMLS CUI

C5231465;

Genes related to phenotype
- Retinoid isomerohydrolase rpe65 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Chorioretinal atrophy [HPO term]
- Nummular pigmentation of the fundus [HPO term]
- Peripheral visual field loss [HPO term]
- Pigmentary retinopathy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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